Publications

Jane Churpek Publications

PubMed listing of publications by Jane Churpek

• Oncogenic DEAD-box ATPase DDX41 establishes transcript ensembles via CLK3-dependent and -independent mechanisms

  November 5, 2025

• Clonal Hematopoiesis Prevalence Years Before a Thyroid Cancer Diagnosis: A Case-Control Study

  August 6, 2025

• Hematologic Malignancy Frequency, Phenotypes, and Outcomes in Li-Fraumeni Syndrome

  June 20, 2025

• ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders

  April 3, 2025

• Reducing clinical trial eligibility barriers for patients with MDS: an icMDS position statement

  March 27, 2025

• Treatment of Pleural Mesothelioma: ASCO Guideline Update

  January 8, 2025

• Different phenotypes with different endings-Telomere biology disorders and cancer predisposition with long telomeres

  October 28, 2024

• Contemporary Approach to the Diagnosis and Classification of Myelodysplastic Neoplasms/Syndromes-Recommendations From the International Consortium for Myelodysplastic Neoplasms/Syndromes (MDS [icMDS])

  September 25, 2024

• Real world predictors of response and 24-month survival in high-grade TP53-mutated myeloid neoplasms

  June 18, 2024

• Implementation of and Systems-Level Barriers to Guideline-Driven Germline Genetic Evaluation in the Care of Patients With Myelodysplastic Syndrome and Acute Myeloid Leukemia

  June 7, 2024

• Venous Thromboembolism in Peritoneal Mesothelioma: Uncovering the Hidden Risk

  February 19, 2024

• Implementation of a prospective screening strategy to identify adults with a telomere biology disorder among those undergoing lung transplant evaluation for interstitial lung disease

  November 11, 2023

• Classification, risk stratification and response assessment in myelodysplastic syndromes/neoplasms (MDS): A state-of-the-art report on behalf of the International Consortium for MDS (icMDS)

  September 13, 2023

• Uptake of Genetic Research Results and Patient-Reported Outcomes With Return of Results Incorporating Web-Based Predisclosure Education

  August 23, 2023

• Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma

  August 9, 2023

• Needle in a haystack or elephant in the room? Identifying germline predisposition syndromes in the setting of a new myeloid malignancy diagnosis

  July 1, 2023

• Surgical phenotype of patients with peritoneal mesothelioma and a germline mutation

  April 12, 2023

• Current landscape of translational and clinical research in myelodysplastic syndromes/neoplasms (MDS): Proceedings from the 1st International Workshop on MDS (iwMDS) Of the International Consortium for MDS (icMDS)

  March 18, 2023

• Discriminating activities of DEAD-Box Helicase 41 from myeloid malignancy-associated germline variants by genetic rescue

  November 8, 2022

• 68Ga-DOTATATE Avid Metastatic Vertebral Renal Cell Carcinoma in the Setting of von Hippel-Lindau Syndrome

  October 31, 2022

• Finding consistency in classifications of myeloid neoplasms: a perspective on behalf of the International Workshop for Myelodysplastic Syndromes

  October 20, 2022

• An agenda to advance research in myelodysplastic syndromes: a TOP 10 priority list from the first international workshop in MDS

  October 19, 2022

• A Case of Isolated Myeloid Sarcoma Associated With Germline EGFR T790M Variant: The Importance of Recognizing Potential Germline Variants on Somatic Tumor Sequencing Panels

  May 16, 2022

• Medical and Surgical Care of Patients With Mesothelioma and Their Relatives Carrying Germline BAP1 Mutations

  April 24, 2022

• Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders

  April 14, 2022

• Clinical Activity of Olaparib in Urothelial Bladder Cancer With DNA Damage Response Gene Mutations

  February 9, 2022

• Integrating germline variant assessment into routine clinical practice for myelodysplastic syndrome and acute myeloid leukaemia: current strategies and challenges

  October 18, 2021

• Approach to the diagnosis of aplastic anemia

  June 22, 2021

• Germline variants drive myelodysplastic syndrome in young adults

  January 29, 2021

• Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations

  October 9, 2020

• Hematologic toxicity in BRCA1 and BRCA2 mutation carriers during chemotherapy: A retrospective matched cohort study

  August 14, 2019

• Inherited predisposition to malignant mesothelioma and overall survival following platinum chemotherapy

  April 13, 2019

• Transcription factor mutations as a cause of familial myeloid neoplasms

  February 2, 2019

• Glucocorticoid receptor expression is associated with inferior overall survival independent of BRCA mutation status in ovarian cancer

  January 27, 2019

• Treatment of Acute Promyelocytic Leukemia in Adults

  November 14, 2018

• Frequency of Germline Mutations in Cancer Susceptibility Genes in Malignant Mesothelioma

  August 17, 2018

• Universal genetic testing for inherited susceptibility in children and adults with myelodysplastic syndrome and acute myeloid leukemia: are we there yet?

  February 28, 2018

• Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies

  January 25, 2018

• A phase I study of selinexor in combination with high-dose cytarabine and mitoxantrone for remission induction in patients with acute myeloid leukemia

  January 7, 2018

• Old and new tools in the clinical diagnosis of inherited bone marrow failure syndromes

  December 10, 2017

• Familial myelodysplastic syndrome/acute myeloid leukemia

  November 21, 2017

• Spontaneous Hepatic Rupture Associated With Epstein-Barr Virus Negative Aggressive Natural Killer Cell Leukemia

  November 18, 2017

• Recognition of familial myeloid neoplasia in adults

  June 23, 2017

• Bad blood contaminating germline databases?

  April 21, 2017

• Efficacy of single-agent decitabine in relapsed and refractory acute myeloid leukemia

  March 11, 2017

• Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes

  January 21, 2017

• Identifying Inherited and Acquired Genetic Factors Involved in Poor Stem Cell Mobilization and Donor-Derived Malignancy

  August 8, 2016

• How I diagnose and manage individuals at risk for inherited myeloid malignancies

  July 30, 2016

• Evaluation of Patients and Families With Concern for Predispositions to Hematologic Malignancies Within the Hereditary Hematologic Malignancy Clinic (HHMC)

  May 24, 2016

• Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies

  December 30, 2015

• Brca1 deficiency causes bone marrow failure and spontaneous hematologic malignancies in mice

  December 9, 2015

• Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia

  December 8, 2015

• Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia

  October 24, 2015

• Correspondence Regarding the Consensus Statement from the Worldwide Network for Blood and Marrow Transplantation Standing Committee on Donor Issues

  October 20, 2015

• Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms

  April 30, 2015

• Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

  January 13, 2015

• Inherited predisposition to breast cancer among African American women

  November 28, 2014

• A new family with a germline ANKRD26 mutation and predisposition to myeloid malignancies

  March 18, 2014

• The evolving challenge of therapy-related myeloid neoplasms

  February 11, 2014

• Familial myelodysplastic syndrome/acute leukemia syndromes: a review and utility for translational investigations

  January 29, 2014

• Validation and implementation of targeted capture and sequencing for the detection of actionable mutation, copy number variation, and gene rearrangement in clinical cancer specimens

  November 6, 2013

• Recognizing familial myeloid leukemia in adults

  August 9, 2013

• A phase 2 study of epothilone B analog BMS-247550 (NSC 710428) in patients with relapsed aggressive non-Hodgkin lymphomas

  January 12, 2013

• Identifying familial myelodysplastic/acute leukemia predisposition syndromes through hematopoietic stem cell transplantation donors with thrombocytopenia

  December 22, 2012

• Proposal for the clinical detection and management of patients and their family members with familial myelodysplastic syndrome/acute leukemia predisposition syndromes

  June 14, 2012

• Identification and molecular characterization of a novel 3′ mutation in RUNX1 in a family with familial platelet disorder

  September 18, 2010

• Heritability of hematologic malignancies: from pedigrees to genomics

  September 7, 2010

• DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia

  January 1, 1993